NM_007294.4(BRCA1):c.3890C>A (p.Ser1297Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 23, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003157990.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3890C>A (p.Ser1297Tyr)]

NM_007294.4(BRCA1):c.3890C>A (p.Ser1297Tyr)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3890C>A (p.Ser1297Tyr)

HGVS:

NC_000017.11:g.43091641G>T
NG_005905.2:g.126343C>A
NG_087068.1:g.623G>T
NM_001407571.1:c.3677C>A
NM_001407581.1:c.3890C>A
NM_001407582.1:c.3890C>A
NM_001407583.1:c.3890C>A
NM_001407585.1:c.3890C>A
NM_001407587.1:c.3887C>A
NM_001407590.1:c.3887C>A
NM_001407591.1:c.3887C>A
NM_001407593.1:c.3890C>A
NM_001407594.1:c.3890C>A
NM_001407596.1:c.3890C>A
NM_001407597.1:c.3890C>A
NM_001407598.1:c.3890C>A
NM_001407602.1:c.3890C>A
NM_001407603.1:c.3890C>A
NM_001407605.1:c.3890C>A
NM_001407610.1:c.3887C>A
NM_001407611.1:c.3887C>A
NM_001407612.1:c.3887C>A
NM_001407613.1:c.3887C>A
NM_001407614.1:c.3887C>A
NM_001407615.1:c.3887C>A
NM_001407616.1:c.3890C>A
NM_001407617.1:c.3890C>A
NM_001407618.1:c.3890C>A
NM_001407619.1:c.3890C>A
NM_001407620.1:c.3890C>A
NM_001407621.1:c.3890C>A
NM_001407622.1:c.3890C>A
NM_001407623.1:c.3890C>A
NM_001407624.1:c.3890C>A
NM_001407625.1:c.3890C>A
NM_001407626.1:c.3890C>A
NM_001407627.1:c.3887C>A
NM_001407628.1:c.3887C>A
NM_001407629.1:c.3887C>A
NM_001407630.1:c.3887C>A
NM_001407631.1:c.3887C>A
NM_001407632.1:c.3887C>A
NM_001407633.1:c.3887C>A
NM_001407634.1:c.3887C>A
NM_001407635.1:c.3887C>A
NM_001407636.1:c.3887C>A
NM_001407637.1:c.3887C>A
NM_001407638.1:c.3887C>A
NM_001407639.1:c.3890C>A
NM_001407640.1:c.3890C>A
NM_001407641.1:c.3890C>A
NM_001407642.1:c.3890C>A
NM_001407644.1:c.3887C>A
NM_001407645.1:c.3887C>A
NM_001407646.1:c.3881C>A
NM_001407647.1:c.3881C>A
NM_001407648.1:c.3767C>A
NM_001407649.1:c.3764C>A
NM_001407652.1:c.3890C>A
NM_001407653.1:c.3812C>A
NM_001407654.1:c.3812C>A
NM_001407655.1:c.3812C>A
NM_001407656.1:c.3812C>A
NM_001407657.1:c.3812C>A
NM_001407658.1:c.3812C>A
NM_001407659.1:c.3809C>A
NM_001407660.1:c.3809C>A
NM_001407661.1:c.3809C>A
NM_001407662.1:c.3809C>A
NM_001407663.1:c.3812C>A
NM_001407664.1:c.3767C>A
NM_001407665.1:c.3767C>A
NM_001407666.1:c.3767C>A
NM_001407667.1:c.3767C>A
NM_001407668.1:c.3767C>A
NM_001407669.1:c.3767C>A
NM_001407670.1:c.3764C>A
NM_001407671.1:c.3764C>A
NM_001407672.1:c.3764C>A
NM_001407673.1:c.3764C>A
NM_001407674.1:c.3767C>A
NM_001407675.1:c.3767C>A
NM_001407676.1:c.3767C>A
NM_001407677.1:c.3767C>A
NM_001407678.1:c.3767C>A
NM_001407679.1:c.3767C>A
NM_001407680.1:c.3767C>A
NM_001407681.1:c.3767C>A
NM_001407682.1:c.3767C>A
NM_001407683.1:c.3767C>A
NM_001407684.1:c.3890C>A
NM_001407685.1:c.3764C>A
NM_001407686.1:c.3764C>A
NM_001407687.1:c.3764C>A
NM_001407688.1:c.3764C>A
NM_001407689.1:c.3764C>A
NM_001407690.1:c.3764C>A
NM_001407691.1:c.3764C>A
NM_001407692.1:c.3749C>A
NM_001407694.1:c.3749C>A
NM_001407695.1:c.3749C>A
NM_001407696.1:c.3749C>A
NM_001407697.1:c.3749C>A
NM_001407698.1:c.3749C>A
NM_001407724.1:c.3749C>A
NM_001407725.1:c.3749C>A
NM_001407726.1:c.3749C>A
NM_001407727.1:c.3749C>A
NM_001407728.1:c.3749C>A
NM_001407729.1:c.3749C>A
NM_001407730.1:c.3749C>A
NM_001407731.1:c.3749C>A
NM_001407732.1:c.3749C>A
NM_001407733.1:c.3749C>A
NM_001407734.1:c.3749C>A
NM_001407735.1:c.3749C>A
NM_001407736.1:c.3749C>A
NM_001407737.1:c.3749C>A
NM_001407738.1:c.3749C>A
NM_001407739.1:c.3749C>A
NM_001407740.1:c.3746C>A
NM_001407741.1:c.3746C>A
NM_001407742.1:c.3746C>A
NM_001407743.1:c.3746C>A
NM_001407744.1:c.3746C>A
NM_001407745.1:c.3746C>A
NM_001407746.1:c.3746C>A
NM_001407747.1:c.3746C>A
NM_001407748.1:c.3746C>A
NM_001407749.1:c.3746C>A
NM_001407750.1:c.3749C>A
NM_001407751.1:c.3749C>A
NM_001407752.1:c.3749C>A
NM_001407838.1:c.3746C>A
NM_001407839.1:c.3746C>A
NM_001407841.1:c.3746C>A
NM_001407842.1:c.3746C>A
NM_001407843.1:c.3746C>A
NM_001407844.1:c.3746C>A
NM_001407845.1:c.3746C>A
NM_001407846.1:c.3746C>A
NM_001407847.1:c.3746C>A
NM_001407848.1:c.3746C>A
NM_001407849.1:c.3746C>A
NM_001407850.1:c.3749C>A
NM_001407851.1:c.3749C>A
NM_001407852.1:c.3749C>A
NM_001407853.1:c.3677C>A
NM_001407854.1:c.3890C>A
NM_001407858.1:c.3890C>A
NM_001407859.1:c.3890C>A
NM_001407860.1:c.3887C>A
NM_001407861.1:c.3887C>A
NM_001407862.1:c.3689C>A
NM_001407863.1:c.3767C>A
NM_001407874.1:c.3686C>A
NM_001407875.1:c.3686C>A
NM_001407879.1:c.3680C>A
NM_001407881.1:c.3680C>A
NM_001407882.1:c.3680C>A
NM_001407884.1:c.3680C>A
NM_001407885.1:c.3680C>A
NM_001407886.1:c.3680C>A
NM_001407887.1:c.3680C>A
NM_001407889.1:c.3680C>A
NM_001407894.1:c.3677C>A
NM_001407895.1:c.3677C>A
NM_001407896.1:c.3677C>A
NM_001407897.1:c.3677C>A
NM_001407898.1:c.3677C>A
NM_001407899.1:c.3677C>A
NM_001407900.1:c.3680C>A
NM_001407902.1:c.3680C>A
NM_001407904.1:c.3680C>A
NM_001407906.1:c.3680C>A
NM_001407907.1:c.3680C>A
NM_001407908.1:c.3680C>A
NM_001407909.1:c.3680C>A
NM_001407910.1:c.3680C>A
NM_001407915.1:c.3677C>A
NM_001407916.1:c.3677C>A
NM_001407917.1:c.3677C>A
NM_001407918.1:c.3677C>A
NM_001407919.1:c.3767C>A
NM_001407920.1:c.3626C>A
NM_001407921.1:c.3626C>A
NM_001407922.1:c.3626C>A
NM_001407923.1:c.3626C>A
NM_001407924.1:c.3626C>A
NM_001407925.1:c.3626C>A
NM_001407926.1:c.3626C>A
NM_001407927.1:c.3626C>A
NM_001407928.1:c.3626C>A
NM_001407929.1:c.3626C>A
NM_001407930.1:c.3623C>A
NM_001407931.1:c.3623C>A
NM_001407932.1:c.3623C>A
NM_001407933.1:c.3626C>A
NM_001407934.1:c.3623C>A
NM_001407935.1:c.3626C>A
NM_001407936.1:c.3623C>A
NM_001407937.1:c.3767C>A
NM_001407938.1:c.3767C>A
NM_001407939.1:c.3767C>A
NM_001407940.1:c.3764C>A
NM_001407941.1:c.3764C>A
NM_001407942.1:c.3749C>A
NM_001407943.1:c.3746C>A
NM_001407944.1:c.3749C>A
NM_001407945.1:c.3749C>A
NM_001407946.1:c.3557C>A
NM_001407947.1:c.3557C>A
NM_001407948.1:c.3557C>A
NM_001407949.1:c.3557C>A
NM_001407950.1:c.3557C>A
NM_001407951.1:c.3557C>A
NM_001407952.1:c.3557C>A
NM_001407953.1:c.3557C>A
NM_001407954.1:c.3554C>A
NM_001407955.1:c.3554C>A
NM_001407956.1:c.3554C>A
NM_001407957.1:c.3557C>A
NM_001407958.1:c.3554C>A
NM_001407959.1:c.3509C>A
NM_001407960.1:c.3509C>A
NM_001407962.1:c.3506C>A
NM_001407963.1:c.3509C>A
NM_001407964.1:c.3746C>A
NM_001407965.1:c.3386C>A
NM_001407966.1:c.3002C>A
NM_001407967.1:c.3002C>A
NM_001407968.1:c.1286C>A
NM_001407969.1:c.1286C>A
NM_001407970.1:c.788-609C>A
NM_001407971.1:c.788-609C>A
NM_001407972.1:c.785-609C>A
NM_001407973.1:c.788-609C>A
NM_001407974.1:c.788-609C>A
NM_001407975.1:c.788-609C>A
NM_001407976.1:c.788-609C>A
NM_001407977.1:c.788-609C>A
NM_001407978.1:c.788-609C>A
NM_001407979.1:c.788-609C>A
NM_001407980.1:c.788-609C>A
NM_001407981.1:c.788-609C>A
NM_001407982.1:c.788-609C>A
NM_001407983.1:c.788-609C>A
NM_001407984.1:c.785-609C>A
NM_001407985.1:c.785-609C>A
NM_001407986.1:c.785-609C>A
NM_001407990.1:c.788-609C>A
NM_001407991.1:c.785-609C>A
NM_001407992.1:c.785-609C>A
NM_001407993.1:c.788-609C>A
NM_001408392.1:c.785-609C>A
NM_001408396.1:c.785-609C>A
NM_001408397.1:c.785-609C>A
NM_001408398.1:c.785-609C>A
NM_001408399.1:c.785-609C>A
NM_001408400.1:c.785-609C>A
NM_001408401.1:c.785-609C>A
NM_001408402.1:c.785-609C>A
NM_001408403.1:c.788-609C>A
NM_001408404.1:c.788-609C>A
NM_001408406.1:c.791-618C>A
NM_001408407.1:c.785-609C>A
NM_001408408.1:c.779-609C>A
NM_001408409.1:c.710-609C>A
NM_001408410.1:c.647-609C>A
NM_001408411.1:c.710-609C>A
NM_001408412.1:c.710-609C>A
NM_001408413.1:c.707-609C>A
NM_001408414.1:c.710-609C>A
NM_001408415.1:c.710-609C>A
NM_001408416.1:c.707-609C>A
NM_001408418.1:c.671-609C>A
NM_001408419.1:c.671-609C>A
NM_001408420.1:c.671-609C>A
NM_001408421.1:c.668-609C>A
NM_001408422.1:c.671-609C>A
NM_001408423.1:c.671-609C>A
NM_001408424.1:c.668-609C>A
NM_001408425.1:c.665-609C>A
NM_001408426.1:c.665-609C>A
NM_001408427.1:c.665-609C>A
NM_001408428.1:c.665-609C>A
NM_001408429.1:c.665-609C>A
NM_001408430.1:c.665-609C>A
NM_001408431.1:c.668-609C>A
NM_001408432.1:c.662-609C>A
NM_001408433.1:c.662-609C>A
NM_001408434.1:c.662-609C>A
NM_001408435.1:c.662-609C>A
NM_001408436.1:c.665-609C>A
NM_001408437.1:c.665-609C>A
NM_001408438.1:c.665-609C>A
NM_001408439.1:c.665-609C>A
NM_001408440.1:c.665-609C>A
NM_001408441.1:c.665-609C>A
NM_001408442.1:c.665-609C>A
NM_001408443.1:c.665-609C>A
NM_001408444.1:c.665-609C>A
NM_001408445.1:c.662-609C>A
NM_001408446.1:c.662-609C>A
NM_001408447.1:c.662-609C>A
NM_001408448.1:c.662-609C>A
NM_001408450.1:c.662-609C>A
NM_001408451.1:c.653-609C>A
NM_001408452.1:c.647-609C>A
NM_001408453.1:c.647-609C>A
NM_001408454.1:c.647-609C>A
NM_001408455.1:c.647-609C>A
NM_001408456.1:c.647-609C>A
NM_001408457.1:c.647-609C>A
NM_001408458.1:c.647-609C>A
NM_001408459.1:c.647-609C>A
NM_001408460.1:c.647-609C>A
NM_001408461.1:c.647-609C>A
NM_001408462.1:c.644-609C>A
NM_001408463.1:c.644-609C>A
NM_001408464.1:c.644-609C>A
NM_001408465.1:c.644-609C>A
NM_001408466.1:c.647-609C>A
NM_001408467.1:c.647-609C>A
NM_001408468.1:c.644-609C>A
NM_001408469.1:c.647-609C>A
NM_001408470.1:c.644-609C>A
NM_001408472.1:c.788-609C>A
NM_001408473.1:c.785-609C>A
NM_001408474.1:c.587-609C>A
NM_001408475.1:c.584-609C>A
NM_001408476.1:c.587-609C>A
NM_001408478.1:c.578-609C>A
NM_001408479.1:c.578-609C>A
NM_001408480.1:c.578-609C>A
NM_001408481.1:c.578-609C>A
NM_001408482.1:c.578-609C>A
NM_001408483.1:c.578-609C>A
NM_001408484.1:c.578-609C>A
NM_001408485.1:c.578-609C>A
NM_001408489.1:c.578-609C>A
NM_001408490.1:c.575-609C>A
NM_001408491.1:c.575-609C>A
NM_001408492.1:c.578-609C>A
NM_001408493.1:c.575-609C>A
NM_001408494.1:c.548-609C>A
NM_001408495.1:c.545-609C>A
NM_001408496.1:c.524-609C>A
NM_001408497.1:c.524-609C>A
NM_001408498.1:c.524-609C>A
NM_001408499.1:c.524-609C>A
NM_001408500.1:c.524-609C>A
NM_001408501.1:c.524-609C>A
NM_001408502.1:c.455-609C>A
NM_001408503.1:c.521-609C>A
NM_001408504.1:c.521-609C>A
NM_001408505.1:c.521-609C>A
NM_001408506.1:c.461-609C>A
NM_001408507.1:c.461-609C>A
NM_001408508.1:c.452-609C>A
NM_001408509.1:c.452-609C>A
NM_001408510.1:c.407-609C>A
NM_001408511.1:c.404-609C>A
NM_001408512.1:c.284-609C>A
NM_001408513.1:c.578-609C>A
NM_001408514.1:c.578-609C>A
NM_007294.4:c.3890C>AMANE SELECT
NM_007297.4:c.3749C>A
NM_007298.4:c.788-609C>A
NM_007299.4:c.788-609C>A
NM_007300.4:c.3890C>A
NP_001394500.1:p.Ser1226Tyr
NP_001394510.1:p.Ser1297Tyr
NP_001394511.1:p.Ser1297Tyr
NP_001394512.1:p.Ser1297Tyr
NP_001394514.1:p.Ser1297Tyr
NP_001394516.1:p.Ser1296Tyr
NP_001394519.1:p.Ser1296Tyr
NP_001394520.1:p.Ser1296Tyr
NP_001394522.1:p.Ser1297Tyr
NP_001394523.1:p.Ser1297Tyr
NP_001394525.1:p.Ser1297Tyr
NP_001394526.1:p.Ser1297Tyr
NP_001394527.1:p.Ser1297Tyr
NP_001394531.1:p.Ser1297Tyr
NP_001394532.1:p.Ser1297Tyr
NP_001394534.1:p.Ser1297Tyr
NP_001394539.1:p.Ser1296Tyr
NP_001394540.1:p.Ser1296Tyr
NP_001394541.1:p.Ser1296Tyr
NP_001394542.1:p.Ser1296Tyr
NP_001394543.1:p.Ser1296Tyr
NP_001394544.1:p.Ser1296Tyr
NP_001394545.1:p.Ser1297Tyr
NP_001394546.1:p.Ser1297Tyr
NP_001394547.1:p.Ser1297Tyr
NP_001394548.1:p.Ser1297Tyr
NP_001394549.1:p.Ser1297Tyr
NP_001394550.1:p.Ser1297Tyr
NP_001394551.1:p.Ser1297Tyr
NP_001394552.1:p.Ser1297Tyr
NP_001394553.1:p.Ser1297Tyr
NP_001394554.1:p.Ser1297Tyr
NP_001394555.1:p.Ser1297Tyr
NP_001394556.1:p.Ser1296Tyr
NP_001394557.1:p.Ser1296Tyr
NP_001394558.1:p.Ser1296Tyr
NP_001394559.1:p.Ser1296Tyr
NP_001394560.1:p.Ser1296Tyr
NP_001394561.1:p.Ser1296Tyr
NP_001394562.1:p.Ser1296Tyr
NP_001394563.1:p.Ser1296Tyr
NP_001394564.1:p.Ser1296Tyr
NP_001394565.1:p.Ser1296Tyr
NP_001394566.1:p.Ser1296Tyr
NP_001394567.1:p.Ser1296Tyr
NP_001394568.1:p.Ser1297Tyr
NP_001394569.1:p.Ser1297Tyr
NP_001394570.1:p.Ser1297Tyr
NP_001394571.1:p.Ser1297Tyr
NP_001394573.1:p.Ser1296Tyr
NP_001394574.1:p.Ser1296Tyr
NP_001394575.1:p.Ser1294Tyr
NP_001394576.1:p.Ser1294Tyr
NP_001394577.1:p.Ser1256Tyr
NP_001394578.1:p.Ser1255Tyr
NP_001394581.1:p.Ser1297Tyr
NP_001394582.1:p.Ser1271Tyr
NP_001394583.1:p.Ser1271Tyr
NP_001394584.1:p.Ser1271Tyr
NP_001394585.1:p.Ser1271Tyr
NP_001394586.1:p.Ser1271Tyr
NP_001394587.1:p.Ser1271Tyr
NP_001394588.1:p.Ser1270Tyr
NP_001394589.1:p.Ser1270Tyr
NP_001394590.1:p.Ser1270Tyr
NP_001394591.1:p.Ser1270Tyr
NP_001394592.1:p.Ser1271Tyr
NP_001394593.1:p.Ser1256Tyr
NP_001394594.1:p.Ser1256Tyr
NP_001394595.1:p.Ser1256Tyr
NP_001394596.1:p.Ser1256Tyr
NP_001394597.1:p.Ser1256Tyr
NP_001394598.1:p.Ser1256Tyr
NP_001394599.1:p.Ser1255Tyr
NP_001394600.1:p.Ser1255Tyr
NP_001394601.1:p.Ser1255Tyr
NP_001394602.1:p.Ser1255Tyr
NP_001394603.1:p.Ser1256Tyr
NP_001394604.1:p.Ser1256Tyr
NP_001394605.1:p.Ser1256Tyr
NP_001394606.1:p.Ser1256Tyr
NP_001394607.1:p.Ser1256Tyr
NP_001394608.1:p.Ser1256Tyr
NP_001394609.1:p.Ser1256Tyr
NP_001394610.1:p.Ser1256Tyr
NP_001394611.1:p.Ser1256Tyr
NP_001394612.1:p.Ser1256Tyr
NP_001394613.1:p.Ser1297Tyr
NP_001394614.1:p.Ser1255Tyr
NP_001394615.1:p.Ser1255Tyr
NP_001394616.1:p.Ser1255Tyr
NP_001394617.1:p.Ser1255Tyr
NP_001394618.1:p.Ser1255Tyr
NP_001394619.1:p.Ser1255Tyr
NP_001394620.1:p.Ser1255Tyr
NP_001394621.1:p.Ser1250Tyr
NP_001394623.1:p.Ser1250Tyr
NP_001394624.1:p.Ser1250Tyr
NP_001394625.1:p.Ser1250Tyr
NP_001394626.1:p.Ser1250Tyr
NP_001394627.1:p.Ser1250Tyr
NP_001394653.1:p.Ser1250Tyr
NP_001394654.1:p.Ser1250Tyr
NP_001394655.1:p.Ser1250Tyr
NP_001394656.1:p.Ser1250Tyr
NP_001394657.1:p.Ser1250Tyr
NP_001394658.1:p.Ser1250Tyr
NP_001394659.1:p.Ser1250Tyr
NP_001394660.1:p.Ser1250Tyr
NP_001394661.1:p.Ser1250Tyr
NP_001394662.1:p.Ser1250Tyr
NP_001394663.1:p.Ser1250Tyr
NP_001394664.1:p.Ser1250Tyr
NP_001394665.1:p.Ser1250Tyr
NP_001394666.1:p.Ser1250Tyr
NP_001394667.1:p.Ser1250Tyr
NP_001394668.1:p.Ser1250Tyr
NP_001394669.1:p.Ser1249Tyr
NP_001394670.1:p.Ser1249Tyr
NP_001394671.1:p.Ser1249Tyr
NP_001394672.1:p.Ser1249Tyr
NP_001394673.1:p.Ser1249Tyr
NP_001394674.1:p.Ser1249Tyr
NP_001394675.1:p.Ser1249Tyr
NP_001394676.1:p.Ser1249Tyr
NP_001394677.1:p.Ser1249Tyr
NP_001394678.1:p.Ser1249Tyr
NP_001394679.1:p.Ser1250Tyr
NP_001394680.1:p.Ser1250Tyr
NP_001394681.1:p.Ser1250Tyr
NP_001394767.1:p.Ser1249Tyr
NP_001394768.1:p.Ser1249Tyr
NP_001394770.1:p.Ser1249Tyr
NP_001394771.1:p.Ser1249Tyr
NP_001394772.1:p.Ser1249Tyr
NP_001394773.1:p.Ser1249Tyr
NP_001394774.1:p.Ser1249Tyr
NP_001394775.1:p.Ser1249Tyr
NP_001394776.1:p.Ser1249Tyr
NP_001394777.1:p.Ser1249Tyr
NP_001394778.1:p.Ser1249Tyr
NP_001394779.1:p.Ser1250Tyr
NP_001394780.1:p.Ser1250Tyr
NP_001394781.1:p.Ser1250Tyr
NP_001394782.1:p.Ser1226Tyr
NP_001394783.1:p.Ser1297Tyr
NP_001394787.1:p.Ser1297Tyr
NP_001394788.1:p.Ser1297Tyr
NP_001394789.1:p.Ser1296Tyr
NP_001394790.1:p.Ser1296Tyr
NP_001394791.1:p.Ser1230Tyr
NP_001394792.1:p.Ser1256Tyr
NP_001394803.1:p.Ser1229Tyr
NP_001394804.1:p.Ser1229Tyr
NP_001394808.1:p.Ser1227Tyr
NP_001394810.1:p.Ser1227Tyr
NP_001394811.1:p.Ser1227Tyr
NP_001394813.1:p.Ser1227Tyr
NP_001394814.1:p.Ser1227Tyr
NP_001394815.1:p.Ser1227Tyr
NP_001394816.1:p.Ser1227Tyr
NP_001394818.1:p.Ser1227Tyr
NP_001394823.1:p.Ser1226Tyr
NP_001394824.1:p.Ser1226Tyr
NP_001394825.1:p.Ser1226Tyr
NP_001394826.1:p.Ser1226Tyr
NP_001394827.1:p.Ser1226Tyr
NP_001394828.1:p.Ser1226Tyr
NP_001394829.1:p.Ser1227Tyr
NP_001394831.1:p.Ser1227Tyr
NP_001394833.1:p.Ser1227Tyr
NP_001394835.1:p.Ser1227Tyr
NP_001394836.1:p.Ser1227Tyr
NP_001394837.1:p.Ser1227Tyr
NP_001394838.1:p.Ser1227Tyr
NP_001394839.1:p.Ser1227Tyr
NP_001394844.1:p.Ser1226Tyr
NP_001394845.1:p.Ser1226Tyr
NP_001394846.1:p.Ser1226Tyr
NP_001394847.1:p.Ser1226Tyr
NP_001394848.1:p.Ser1256Tyr
NP_001394849.1:p.Ser1209Tyr
NP_001394850.1:p.Ser1209Tyr
NP_001394851.1:p.Ser1209Tyr
NP_001394852.1:p.Ser1209Tyr
NP_001394853.1:p.Ser1209Tyr
NP_001394854.1:p.Ser1209Tyr
NP_001394855.1:p.Ser1209Tyr
NP_001394856.1:p.Ser1209Tyr
NP_001394857.1:p.Ser1209Tyr
NP_001394858.1:p.Ser1209Tyr
NP_001394859.1:p.Ser1208Tyr
NP_001394860.1:p.Ser1208Tyr
NP_001394861.1:p.Ser1208Tyr
NP_001394862.1:p.Ser1209Tyr
NP_001394863.1:p.Ser1208Tyr
NP_001394864.1:p.Ser1209Tyr
NP_001394865.1:p.Ser1208Tyr
NP_001394866.1:p.Ser1256Tyr
NP_001394867.1:p.Ser1256Tyr
NP_001394868.1:p.Ser1256Tyr
NP_001394869.1:p.Ser1255Tyr
NP_001394870.1:p.Ser1255Tyr
NP_001394871.1:p.Ser1250Tyr
NP_001394872.1:p.Ser1249Tyr
NP_001394873.1:p.Ser1250Tyr
NP_001394874.1:p.Ser1250Tyr
NP_001394875.1:p.Ser1186Tyr
NP_001394876.1:p.Ser1186Tyr
NP_001394877.1:p.Ser1186Tyr
NP_001394878.1:p.Ser1186Tyr
NP_001394879.1:p.Ser1186Tyr
NP_001394880.1:p.Ser1186Tyr
NP_001394881.1:p.Ser1186Tyr
NP_001394882.1:p.Ser1186Tyr
NP_001394883.1:p.Ser1185Tyr
NP_001394884.1:p.Ser1185Tyr
NP_001394885.1:p.Ser1185Tyr
NP_001394886.1:p.Ser1186Tyr
NP_001394887.1:p.Ser1185Tyr
NP_001394888.1:p.Ser1170Tyr
NP_001394889.1:p.Ser1170Tyr
NP_001394891.1:p.Ser1169Tyr
NP_001394892.1:p.Ser1170Tyr
NP_001394893.1:p.Ser1249Tyr
NP_001394894.1:p.Ser1129Tyr
NP_001394895.1:p.Ser1001Tyr
NP_001394896.1:p.Ser1001Tyr
NP_001394897.1:p.Ser429Tyr
NP_001394898.1:p.Ser429Tyr
NP_009225.1:p.Ser1297Tyr
NP_009225.1:p.Ser1297Tyr
NP_009228.2:p.Ser1250Tyr
NP_009231.2:p.Ser1297Tyr
LRG_292t1:c.3890C>A
LRG_292:g.126343C>A
LRG_292p1:p.Ser1297Tyr
NC_000017.10:g.41243658G>T
NM_007294.3:c.3890C>A
NR_027676.1:n.4026C>A

Protein change:

S1001Y

Molecular consequence:

NM_001407970.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-618C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-609C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3881C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3881C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3812C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3812C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3812C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3812C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3812C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3812C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3809C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3809C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3809C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3809C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3812C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3887C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.3689C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.3686C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.3686C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.3680C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.3677C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.3623C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.3623C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.3623C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.3623C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.3626C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.3623C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.3767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.3764C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.3557C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.3557C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.3557C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.3557C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.3557C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.3557C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.3557C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.3557C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.3554C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.3554C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.3554C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.3557C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.3554C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.3509C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.3509C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.3506C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.3509C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.3746C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.3386C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3002C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3002C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.1286C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.1286C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.3749C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3890C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003849583	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Dines et al. (Genet Med. 2020))	Likely benign (Mar 23, 2023)	germline	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003849583

University of Washington Department of Laboratory Medicine, University of Washington

criteria provided, single submitter

(Dines et al. (Genet Med. 2020))

Likely benign
(Mar 23, 2023)

germline

curation

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.

Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.

PubMed [citation]

PMID:: 31911673
PMCID:: PMC7200594

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003849583.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine